ClinVar Miner

List of variants in gene FGFR3 studied for Camptodactyly-tall stature-scoliosis-hearing loss syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) rs587777857
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) rs121913113
NM_000142.5(FGFR3):c.2287C>T (p.Leu763=) rs774517056
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039

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